A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731848



Internal ID3282344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:32551504..32582136hg38UCSC Ensembl
Outerchr6:32519281..32549913hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3830633
hg1930633
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6869726, essv6934698, essv6899696, essv6890203, essv6748726, essv6782186, essv6849099, essv6697904, essv6808400, essv6798827, essv6833773, essv6795209, essv6764991, essv6938996, essv6918791, essv6798832, essv6860833, essv6795187, essv6805418, essv6956976, essv6844925, essv6888043, essv6869728, essv6872744, essv6671086, essv6678488, essv6814317, essv6667546, essv6795176, essv6960973, essv6705016, essv6939003, essv6728643, essv6786387, essv6676551, essv6748725, essv6715512, essv6723223, essv6818192, essv6701068, essv6830163, essv6751572, essv6969353, essv6928451, essv6899697, essv6928362, essv6893516, essv6798834, essv6814308, essv6926800, essv6754517, essv6708425, essv6745927, essv6844927, essv6774577, essv6814311, essv6943408, essv6703687, essv6764994, essv6790493, essv6826392, essv6676549, essv6918782, essv6860828, essv6782185, essv6683980, essv6974748, essv6960951, essv6745925, essv6960884, essv6837423, essv6875705, essv6703643, essv6727110, essv6683984, essv6943410, essv6760016, essv6770823, essv6844928, essv6667550, essv6782187, essv6923060, essv6770818, essv6790502, essv6951872, essv6814313, essv6754525, essv6727104, essv6687236, essv6887152, essv6711826, essv6951880, essv6678532, essv6875688, essv6907544, essv6855202, essv6778184, essv6808408, essv6798825, essv6860825, essv6899695, essv6694148, essv6841244, essv6705017, essv6875694, essv6961006, essv6841238, essv6865579, essv6872739, essv6951869, essv6676550, essv6875691, essv6778183, essv6730873, essv6690424, essv6690429, essv6878619, essv6760653, essv6923057, essv6739964, essv6814307, essv6805415, essv6952484, essv6808397, essv6805422, essv6708423, essv6956978, essv6969354, essv6811304, essv6760018, essv6833772, essv6751578, essv6875687, essv6830162, essv6844923, essv6907555, essv6923058, essv6705012, essv6860850, essv6930420, essv6667548, essv6676552, essv6963694, essv6907543, essv6833768, essv6719406, essv6930419, essv6915071, essv6786389, essv6869737, essv6872743, essv6860830, essv6830166, essv6764992, essv6757380, essv6907556, essv6890218, essv6678587, essv6886993, essv6918805, essv6960906, essv6865575, essv6708426, essv6844935, essv6676553, essv6860822, essv6805428, essv6708436, essv6708429, essv6960940, essv6963691, essv6878623, essv6833770, essv6822428, essv6963709, essv6860824, essv6844933, essv6938991, essv6825920, essv6915073, essv6748728, essv6951868, essv6818199, essv6805417, essv6855203, essv6690417, essv6930422, essv6926796, essv6808404, essv6719405, essv6878624, essv6734341, essv6802563, essv6814315, essv6690422, essv6926799, essv6680384, essv6886998, essv6794636, essv6884217, essv6719417, essv6887710, essv6734342, essv6748727, essv6860846, essv6899702, essv6855109, essv6694149, essv6830160, essv6915067, essv6923055, essv6884218, essv6887263, essv6826391, essv6918790, essv6844937, essv6881410, essv6938992, essv6708422, essv6928374, essv6754516, essv6844940, essv6778191, essv6808402, essv6711824, essv6943412, essv6743156, essv6760664, essv6869739, essv6703632, essv6930421, essv6963686, essv6974749, essv6760642, essv6881406, essv6730877, essv6678576, essv6719411, essv6760017, essv6833779, essv6690418, essv6884227, essv6676543, essv6778182, essv6960929, essv6805425, essv6918780, essv6805416, essv6790501, essv6943416, essv6814316, essv6926793, essv6869736, essv6743153, essv6805420, essv6865581, essv6782196, essv6963688, essv6790495, essv6915070, essv6711829, essv6928396, essv6860827, essv6728698, essv6826387, essv6754518, essv6849105, essv6963690, essv6762632, essv6915072, essv6798846, essv6893523, essv6754520, essv6943411, essv6705018, essv6860836, essv6888154, essv6918807, essv6734340, essv6833769, essv6818191, essv6826389, essv6825943, essv6727111, essv6943415, essv6893517, essv6805427, essv6887006, essv6767520, essv6711823, essv6770815, essv6811303, essv6786374, essv6881411, essv6739963, essv6960895, essv6869738, essv6943414, essv6754522, essv6687232, essv6938993, essv6767482, essv6887005
SamplesSSM010, SSM065, SSM022, SSM007, SSM027, SSM092, SSM053, SSM082, SSM086, SSM006, SSM036, SSM055, SSM091, SSM033, SSM084, SSM061, SSM042, SSM040, SSM078, SSM043, SSM088, SSM089, SSM090, SSM064, SSM031, SSM035, SSM025, SSM072, SSM020, SSM071, SSM016, SSM057, SSM001, SSM032, SSM039, SSM045, SSM067, SSM094, SSM083, SSM097, SSM041, SSM077, SSM062, SSM005, SSM093, SSM100, SSM056, SSM085, SSM017, SSM009, SSM011, SSM066, SSM028, SSM029, SSM003, SSM095, SSM030, SSM047, SSM073, SSM069, SSM021, SSM002, SSM037, SSM034, SSM063, SSM087, SSM038, SSM046, SSM019, SSM096, SSM023, SSM079, SSM052, SSM068, SSM044, SSM074, SSM004, SSM075, SSM026, SSM014, SSM049, SSM008, SSM098, SSM018, SSM076, SSM058, SSM059, SSM081, SSM070, SSM080
Known GenesHLA-DRB1, HLA-DRB6
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2731848
Frequency
Sample Size96
Observed Gain0
Observed Loss90
Observed Complex0
Frequencyn/a


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